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Novel compound heterozygous FATP 4 mutations caused ichthyosis prematurity syndrome in Spanish sisters
Author(s) -
EsperónMoldes Uxía Saraiva,
Ginarte Manuel,
Santamariña Marta,
RodríguezLage Belinda,
RodríguezPazos Laura,
Vega Ana
Publication year - 2019
Publication title -
acta paediatrica
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.14694
Subject(s) - rna splicing , complementary dna , puromycin , genetics , alternative splicing , capillary electrophoresis , rna , microbiology and biotechnology , biology , medicine , messenger rna , gene , protein biosynthesis